{{Rsnum
|rsid=121912881
|Chromosome=12
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=COL2A1
|position=47986388
|Gene_s=COL2A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120140
|rsnum=121912881
|variant=0028
}}{{ClinVar
|rsid=121912881
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=48380171
|CHROM=12
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=COL2A1:1280
|GENE_NAME=COL2A1
|GENE_ID=1280
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.48380171C>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=120140.0028
|CLNSIG=5
|CLNCUI=C0700635
|CLNDBN=Spondyloepimetaphyseal dysplasia Strudwick type
|Disease=Spondyloepimetaphyseal dysplasia Strudwick type
|CLNACC=RCV000018921.26
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C0700635:184250:93346
}}